Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Serena Forzano"'
Autor:
Alessandro Mussa, Elena Banaudi, Giovanni Battista Ferrero, Serena Forzano, Annalisa Marinosci, Anna Dotta, Cesare Rossi, Margherita Silengo, Marco Tartaglia, Giuseppina Baldassarre
Publikováno v:
Prenatal Diagnosis. 31:949-954
Objective Noonan syndrome (NS) is a common autosomal dominant developmental disorder, mainly characterized by congenital heart defects, short stature, and a variable degree of developmental delay. We have reviewed the prenatal findings in NS and we h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fed771f157b1385c0ed20042902f41d5
https://doi.org/10.1002/pd.2804
https://doi.org/10.1002/pd.2804
Autor:
Francesca Forzano, Florinda Ceriani, Ugo Cavallari, Luigi Gargantini, Stefania Gattone, Emanuela Folliero, Donatella Quagliarini, Serena Forzano, Enrico Grosso, Francesca Faravelli, Pierangela Castorina, Valeria Viassolo, Faustina Lalatta, Valeria Giorgia Naretto, Barbara Gentilin
Publikováno v:
European journal of pediatrics. 169(10)
We report clinical and behavioural evaluation data in 42 Italian girls with triple X syndrome whose diagnosis was made prenatally between 1998 and 2006 in three Italian centres. At initial evaluation, reproductive and medical histories were collected
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76e659f15be485c463d5627eb0a43ad8
https://pubmed.ncbi.nlm.nih.gov/20473517
https://pubmed.ncbi.nlm.nih.gov/20473517
Autor:
Alexandre Reymond, Lucia Micale, Carmela Fusco, Bartolomeo Augello, Elisa Biamino, Giuseppe Merla, Giovanni Battista Ferrero, Cédric Howald, Maria Giuseppina Turturo, Serena Forzano
Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e1fbc736bb6e7c71bbfc111ae47d6d
http://hdl.handle.net/2318/62350
http://hdl.handle.net/2318/62350
Autor:
Ludovica Verdun di Cantogno, Licia Peruzzi, Elena Banaudi, Margherita Silengo, Elisa Biamino, Giovanni Battista Ferrero, Serena Forzano, L Sorasio
Publikováno v:
European journal of medical genetics. 50(5)
Williams-Beuren syndrome (WS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500-1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d7f2dd8138947cc167a27701f15697
https://pubmed.ncbi.nlm.nih.gov/17625998
https://pubmed.ncbi.nlm.nih.gov/17625998